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ATP-binding cassette, sub-family B (MDR/TAP), member 7
Identifiers
Symbols ABCB7; ABC7; ASAT; Atm1p; EST140535
External IDs OMIM300135 HomoloGene3175 GeneCards: ABCB7 Gene
RNA expression pattern
PBB GE ABCB7 209620 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 22 n/a
Ensembl ENSG00000131269 n/a
UniProt O75027 n/a
RefSeq (mRNA) NM_004299 n/a
RefSeq (protein) NP_004290 n/a
Location (UCSC) Chr X:
74.19 - 74.29 Mb
n/a
PubMed search [1] n/a

ATP-binding cassette sub-family B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7 gene.[1][2]

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia.[2]

Contents

See also

Interactions

ABCB7 has been shown to interact with Ferrochelatase.[3]

References

  1. ^ Savary S, Allikmets R, Denizot F, Luciani MF, Mattei MG, Dean M, Chimini G (Jul 1997). "Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human". Genomics 41 (2): 275–8. doi:10.1006/geno.1997.4658. PMID 9143506.  
  2. ^ a b "Entrez Gene: ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22.  
  3. ^ Taketani, Shigeru; Kakimoto Kazuhiro, Ueta Hiromi, Masaki Ryuichi, Furukawa Takako (Apr. 2003). "Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase". Blood (United States) 101 (8): 3274–80. doi:10.1182/blood-2002-04-1212. ISSN 0006-4971. PMID 12480705.  

Further reading

  • Allikmets R, Gerrard B, Hutchinson A, Dean M (1997). "Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database.". Hum. Mol. Genet. 5 (10): 1649–55. doi:10.1093/hmg/5.10.1649. PMID 8894702.  
  • Shimada Y, Okuno S, Kawai A, et al. (1998). "Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.". J. Hum. Genet. 43 (2): 115–22. doi:10.1007/s100380050051. PMID 9621516.  
  • Mao M, Fu G, Wu JS, et al. (1998). "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning.". Proc. Natl. Acad. Sci. U.S.A. 95 (14): 8175–80. doi:10.1073/pnas.95.14.8175. PMID 9653160.  
  • Csere P, Lill R, Kispal G (1999). "Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p.". FEBS Lett. 441 (2): 266–70. doi:10.1016/S0014-5793(98)01560-9. PMID 9883897.  
  • Allikmets R, Raskind WH, Hutchinson A, et al. (1999). "Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).". Hum. Mol. Genet. 8 (5): 743–9. doi:10.1093/hmg/8.5.743. PMID 10196363.  
  • Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMID 11042152.  
  • Bekri S, Kispal G, Lange H, et al. (2000). "Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.". Blood 96 (9): 3256–64. PMID 11050011.  
  • Maguire A, Hellier K, Hammans S, May A (2002). "X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.". Br. J. Haematol. 115 (4): 910–7. doi:10.1046/j.1365-2141.2001.03015.x. PMID 11843825.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Taketani S, Kakimoto K, Ueta H, et al. (2003). "Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase.". Blood 101 (8): 3274–80. doi:10.1182/blood-2002-04-1212. PMID 12480705.  
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.  
  • Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome.". Nature 434 (7031): 325–37. doi:10.1038/nature03440. PMID 15772651.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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